BRCA2 helps repair damaged DNA. Clinically classified pathogenic variants can affect inherited cancer risk; a common SNP or a variant of uncertain significance is a different finding.
Also called: Breast Cancer 2
DNA repair and inherited ca…
CD14 helps immune cells recognize microbial components, including bacterial lipopolysaccharide, as part of innate immune signaling. This places it upstream of some cytokine responses.
Also called: Cluster of Differentiation 14
How immune ce…
CHDH helps convert choline toward betaine, a nutrient involved in the homocysteine pathway.
Also called: Choline Dehydrogenase
Choline can serve more than one purpose
CHDH helps convert choline toward betaine, while PEMT helps make phosphat…
…mponent of type V collagen, which helps organize collagen fibers. It connects to the strength and structure of tendons, skin and other connective tissues.
Also called: Collagen Type V Alpha 1 Chain
Collagen structure, tendons and connective…
…late to tetrahydrofolate-related forms used in cellular metabolism. This is one part of the folate system, distinct from MTHFR and folate transport into cells.
Also called: Dihydrofolate Reductase
Recycling folate into usable cellular forms…
…naling is different from the amount of estrogen measured in blood.
Also called: Estrogen Receptor 1
Estrogen signaling depends on the receptor
ESR1 encodes estrogen receptor alpha, which helps cells respond to estrogen. Receptor signaling i…
Encodes an enzyme involved in fatty-acid metabolism.
Also called: Fatty Acid Desaturase 1 / D5D
The form of a fatty acid matters
Dr. Purser teaches FADS genes as a conversion pathway. FADS1 participates in a delta-5 desaturase step in fatty…
Encodes an enzyme involved in fatty-acid metabolism.
Also called: Fatty Acid Desaturase 2 / D6D
The form of a fatty acid matters
Dr. Purser teaches FADS genes as a conversion pathway. FADS2 participates in a delta-6 desaturase step in fatty…
FOLH1 helps break down folate from food so it can be absorbed. This is different from the MTHFR step.
Also called: Folate Hydrolase 1
Folate handling begins before remethylation
Dr. Purser’s genetic chapters include FOLH1 in folate handling…
…folate and has an important role in folate transport at the brain’s barriers. Blood folate and folate availability in the nervous system are not identical measurements.
Also called: Folate Receptor 1
Folate transport has tissue-specific rol…
FOLR2 encodes folate receptor beta, a folate-binding protein expressed in particular cell types, including subsets of immune cells. It is distinct from the FOLR1 receptor and the SLC19A1 reduced folate carrier.
Also called: Folate Receptor …
FTO is studied in relation to body weight and energy balance. Common variants can contribute to population-level differences in obesity susceptibility, alongside many other genes and environmental factors.
Also called: Fat Mass and Obesity-…
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